Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

ABSTRACT:

Purpose

Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. We explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ≤5 years old who received respiratory support at birth; this subgroup closely matches patients in the ASPIRO trial of gene therapy for XLMTM.

Design

RECENSUS is an international, retrospective study of patients with XLMTM. Descriptive and time-to-event analyses examined survival on the basis of age, respiratory support, tracheostomy use, predicted mutational effects and life-sustaining care.

Results

Outcomes for 145 patients were evaluated. Among 126 patie

SUBMITTER: Graham RJ 

PROVIDER: S-EPMC7054136 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature